A Novel Frameshift Mutation in the First Exon of the 21-OH Gene Found in Homozygosity in an Apparently Nonconsanguineous Family

Publisher： Karger

E-ISSN： 1663-2826|51|3|135-141

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.51, Iss.3, 1999-08, pp. : 135-141

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family

By  

Hormone Research in Paediatrics, Vol. 86, Iss. 1, 2016-04 ,pp. : 53-61

Karger

Access to resources Recommend Favorite

Alternative Splicing of Exon 17 and a Missense Mutation in Exon 20 of the Insulin Receptor Gene in Two Brothers with a Novel Syndrome of Insulin Resistance (Congenital Fiber-Type Disproportion Myopathy)

By  

Hormone Research in Paediatrics, Vol. 52, Iss. 5, 2000-05 ,pp. : 211-220

Karger

Access to resources Recommend Favorite

Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

By  

Hormone Research in Paediatrics, Vol. 68, Iss. 5, 2007-03 ,pp. : 218-224

Karger

Access to resources Recommend Favorite

A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals

By  

Hormone Research in Paediatrics, Vol. 86, Iss. 2, 2016-05 ,pp. : 137-142

Karger

Access to resources Recommend Favorite

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1

By  

Hormone Research in Paediatrics, Vol. 84, Iss. 5, 2015-0 ,pp. : 349-354

Karger

Access to resources Recommend Favorite